Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants
Objective: To determine the frequency and extent of cardiac involvement in female carriers of pathogenic variants in DMD , 53 women were examined through an observational, cross-sectional study. Methods: Genetically verified female carriers of pathogenic DMD variants were examined by cardiac magneti...
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Published in | Frontiers in neurology Vol. 12; p. 707838 |
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Main Authors | , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Frontiers Media S.A
27.07.2021
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Subjects | |
Online Access | Get full text |
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Summary: | Objective:
To determine the frequency and extent of cardiac involvement in female carriers of pathogenic variants in
DMD
, 53 women were examined through an observational, cross-sectional study.
Methods:
Genetically verified female carriers of pathogenic
DMD
variants were examined by cardiac magnetic resonance imaging (CMR) with late gadolinium enhancement, echocardiography, 24-h Holter monitoring, ECG, and blood concentrations of skeletal and cardiac muscle biomarkers.
Results:
Fifty-three female carriers of pathogenic
DMD
variants (mean age 49.6 years, 33 associated with DMD, and 20 with BMD) were included in the study. Sixty-two percent had cardiac dysfunction on echocardiography. On CMR, 49% had myocardial fibrosis, 35% had dilated left ventricles, and 10% had left ventricular hypertrophy. ECGs were abnormal in 72%, and abnormal Holter monitoring was found in 43%. Age did not correlate with myocardial fibrosis or cardiac dysfunction. Myocardial fibrosis was more frequent in carriers of pathogenic variants associated with DMD vs. BMD (61 vs. 28%,
p
= 0.02).
Conclusion:
This study shows that cardiac involvement, affecting both structure and function of the heart, is found in over 2/3 of women with a pathogenic
DMD
variant. The study supports early cardiac screening, including ECG, Holter, and cardiac imaging, in this group of carriers, so that symptoms related to pathogenic variants in
DMD
can be recognized, and relevant treatment can be initiated. Longitudinal studies are needed to assess morbidity and mortality related to single, pathogenic
DMD
variants in women. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 This article was submitted to Neuromuscular Disorders and Peripheral Neuropathies, a section of the journal Frontiers in Neurology Reviewed by: Linda Cripe, Nationwide Children's Hospital, United States; Stanley Iyadurai, Johns Hopkins All Children's Hospital, United States Edited by: Ghazala Hayat, Saint Louis University, United States |
ISSN: | 1664-2295 1664-2295 |
DOI: | 10.3389/fneur.2021.707838 |